NAA10-related syndrome is an extremely rare X-chromosomal disorder, the symptoms of which include intellectual disability (ID), ocular anomalies, or congenital heart diseases, such as hypertrophic cardiomyopathy (HCM). Here, we describe a 4-year-old Japanese male patient who exhibited mild ID, HCM, and specific facial features. A hemizygous mutation (NM_003491.3: c.455_458del, p. Thr152Argfs*6) in exon 7 of NAA10 was detected. We recommend that patients undergo precise medical follow-up considering the characteristics of NAA10-related syndrome.

中文翻译：

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患有NAA10相关综合征和肥厚型心肌病的日本男孩。

NAA10相关综合征是一种极为罕见的X染色体疾病，其症状包括智力障碍（ID），眼部异常或先天性心脏病，例如肥厚性心肌病（HCM）。在这里，我们描述了一名4岁的日本男性患者，其表现出轻度的ID，HCM和特定的面部特征。在外显子7：一个半合子突变（c.455_458del，对Thr152Argfs * 6 NM_003491.3）NAA10检测。考虑到NAA10相关综合征的特征，我们建议患者进行精确的医学随访。